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J Neural Transm (Vienna). 2019 Jan;126(1):101-107. doi: 10.1007/s00702-018-1882-4. Epub 2018 Apr 6.

Clinical utility of pharmacogenetic testing in children and adolescents with severe mental disorders.

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Department of Psychiatry, Segovia de Arana Health Research Institute (IDIPHISA)-Puerta de Hierro University Hospital, Avenida Manuel de Falla s/n, Majadahonda, Madrid, Spain.
Autonoma University, Madrid, Spain.
Biomedical Research Centre in Mental Health Net (CIBERSAM), Madrid, Spain.


This is a retrospective cohort study of 20 children and adolescents to evaluate the clinical utility of a pharmacogenetic decision support tool. Twenty children and adolescents underwent pharmacogenetic testing between June 2014 and May 2017. All children and adolescents were evaluated at Puerta de Hierro University Hospital-Majadahonda (Madrid, Spain). We report the proportion of patients achieving clinical improvement, amelioration of side effects, and changes in number of drugs. Data normality was assessed with the Shapiro-Wilk test, and changes of pre- and post-pharmacogenetic testing were analyzed with the Wilcoxon test for paired samples. A two-sided p value threshold of 0.05 was considered for significance. Pharmacogenetic testing helped to improve the clinical outcome as measured by the Clinical Global Impressions (CGI) Scale in virtually all children (95%; 19 out of 20 children). The CGI improvement (CGI-I) was 2 (0.79) (range 1-4), 2.1 (0.56) (range 1-3), and 1.9 (0.99) (range 1-4) in foster and non-foster care children, respectively. Pharmacogenetic testing also helped to reduce the number of children using polypharmacy (from 65 to 45%), the mean number of drugs per children (from 3.3 to 2.4 drugs, p = 0.017), and self-reported relevant side effects (p = 0.006). Pharmacogenetic testing helped to improve the clinical outcome, and to reduce polypharmacy and the number of drugs used in children and adolescents with severe mental disorders. More evidence using robust (i.e., clinical trials) independent studies is required to properly determine the clinical utility and cost-effectiveness of pharmacogenetic testing tools in children and adolescents with mental disorders.


Children; Mental disorder; Personalized psychiatry; Pharmacogenetic decision support tool; Pharmacogenetic testing; Polypharmacy

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